Canonical Allele Identifier: CA400567491

Gene: ACE

Linked Data

• gnomAD v4: 17-63496923-C-A
• MyVariant Identifiers: chr17:g.61574284C>A (hg19) ; chr17:g.63496923C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63496923C>A , CM000679.2:g.63496923C>A	GRCh38
NC_000017.10:g.61574284C>A , CM000679.1:g.61574284C>A	GRCh37
NC_000017.9:g.58928016C>A	NCBI36
NG_011648.1:g.24851C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3629C>A MANE Select	ENSP00000290866.4:p.Thr1210Lys
ENST00000290863.10:c.1907C>A	ENSP00000290863.6:p.Thr636Lys
ENST00000290866.9:c.3629C>A	ENSP00000290866.4:p.Thr1210Lys
ENST00000413513.7:c.1784C>A	ENSP00000392247.3:p.Thr595Lys
ENST00000428043.5:c.3629C>A	ENSP00000397593.2:p.Thr1210Lys
ENST00000577418.5:n.639C>A
ENST00000577647.2:c.1907C>A	ENSP00000464149.1:p.Thr636Lys
ENST00000578839.5:c.*1384C>A	ENSP00000462110.2:n.*1384C>A
ENST00000579314.5:c.*1358C>A	ENSP00000462599.1:n.*1358C>A
ENST00000579409.1:c.316C>A
ENST00000582244.1:n.503C>A
NM_000789.3:c.3629C>A	NP_000780.1:p.Thr1210Lys
NM_001178057.1:c.1784C>A	NP_001171528.1:p.Thr595Lys
NM_152830.2:c.1907C>A	NP_690043.1:p.Thr636Lys
XM_005257110.1:c.3080C>A	XP_005257167.1:p.Thr1027Lys
XM_006721737.2:c.1967C>A	XP_006721800.2:p.Thr656Lys
XM_006721737.3:c.1967C>A	XP_006721800.2:p.Thr656Lys
NM_000789.4:c.3629C>A MANE Select	NP_000780.1:p.Thr1210Lys
NM_001178057.2:c.1784C>A	NP_001171528.1:p.Thr595Lys
NM_152830.3:c.1907C>A	NP_690043.1:p.Thr636Lys
NM_001382700.1:c.3062C>A	NP_001369629.1:p.Thr1021Lys
NM_001382701.1:c.2777C>A	NP_001369630.1:p.Thr926Lys
NM_001382702.1:c.1244C>A	NP_001369631.1:p.Thr415Lys
NR_168483.1:n.2007C>A